3.06, 4.07, 4.09, 4.18 Exam 2 Pathology Flashcards
> 2cm mass in colonic mucosa that is sessile (no stalk) and villous histology
neoplastic adenoma polyp (malignant potential)
protrusion of colonic mucosa with serrated appearance upper 1/3 crypt on microscopy, <5mm, left sigmoid colon + rectum, more frequent seen in multiples
HP: non-neoplastic hyperplastic polyps
Sessile large, right sided colon polyps with dilation, branching, and serration extending to the base with characteristic T and L shapes
SSA/P: sessile serrated adenoma/polyp
chronic intermittent rectal bleeding, mucus discharge, inflammatory polyps on anterior rectal wall that shows well demarcated ulcer with congestion, hemorrhage, and mucoid exudates on colonoscopy
SRUS single rectal ulcer syndrome
90% of all polyps in children <5 yo, solitary, hamartomatous, no increased cancer risk
sporadic juvenile polyp
child with rectal bleeding, anemia, diarrhea, intussusception, intestinal obstruction, or polyp prolapse that on coloscopy shows but there are multiple polyps or multilobulated (at least 5) in stomach and colon or (+) FH, almost always syndromic with cardiac, vascular, skeletal, cranial deformities and malrotations/diverticulum’s
JPS: juvenile polyposis syndrome
increased risk of colorectal carcinoma
20% of JPS patients have germline mutations in what gene and shows up with what stain?
SMAD4 gene + immunostain
11 yo with mucocutaneous hyperpigmentation, hematochezia, hematemesis, abdominal pain, hamartomatous polyps, arborization and presence of smooth muscle mixed into lamina propria, and increased cancer risk
Peutz-Jeghers Syndrome
What inheritance pattern and mutation in 70-80% Peutz-Jegher’s Syndrome?
AD, LKB1/STK11
what is the inheritance pattern and mutation for familial adenomatous polyposis?
AD, APC gene
25-year-old colonoscopy shows over 100 polyps, family members that died of colorectal cancer, and carry APC mutation, next step?
FAP - prophylactic colectomy
most common neoplastic polyp and why all adults in the US recommended colonoscopy after 45 yo?
colonic adenoma
Does a single cancerous colonic polyp increase the risk of cancer in another polyp?
nope
What colonic adenoma architecture is most likely to harbor cancers?
villous adenomas (larger sessile) > tubular
An older adult with what is assumed to have colorectal cancer until proven otherwise?
iron deficiency anemia
65 yo comes in with asymptomatic chronic bleeding, iron deficiency anemia, positive fecal occult blood test, colonoscopy shows a “raised lesion” in the ascending colon, while biopsy reveals infiltrative malignant glands, and desmoplasia (submucosal invasion)?
colon adenocarcinoma “right sided”
What is the most common variant of colorectal carcinoma?
intestinal type adenocarcinoma 90%
If 75 yo come after years of asymptomatic chronic bleeding, iron deficiency anemia, positive fecal occult blood test now experience endocarditis (streptococcus bovis positive), ascites, SBO, bladder symptoms, abdominal guarding, and sciatic nerve pain? What may be elevated on serum testing?
metastasis of colorectal adenocarcinoma (+ enterocutanous fistulas)
bad prognosis = risk of death
CEA serum elevated
Biopsy of intestines reveals MICRO transmural inflammation, lymphoid aggregates with granulomas, neutrophils in the epithelium, basal lymphoplasmacytosis
GROSS skip lesions, predisposition for strictures, fistulas, and cobblestone mucosa?
crohn’s
What form of IBD is most associated with an increased risk of neoplasia?
Ulcerative colitis
Biopsy of intestines reveals MICRO normal serosal surface, lymphoplasmacytic inflammation of the lamina propria, basal plasmacytosis, crypt abscesses, inflammation restricted to the mucosa, and intact muscularis
GROSS no strictures or mural thickening BUT pseudopolyps, hemorrhagic ulcerations, mucosal bridges
ulcerative colitis
chronic inflammation leading to damaged muscularis propria and disturbed neuromuscular function leading to colonic dilation and risk for perforation
toxic megacolon
Patients present with diarrhea, flushing, and asthmatic symptoms; they also present with RLQ pain. What do you need for a risk assessment?
Biopsy of mass would reveal a yellow nodule around the area of the mural thickening with “salt and pepper: nuclear chromatin, serotonin positive, and chromogranin positive, synaptophysin stain
carcinoid syndrome from a well-differentiated neuroendocrine tumor on the appendix
Ki-67 labeling index
What are most NET tumors of the GI made up of, what do they secrete, and how can you diagnose them?
enterochromaffin cells, G cell tumors, and rectal trabecular L cells
secrete serotonin
diagnose with >10mg 5-hydroxyindolacetic acid in 24 hour urine collection
Usually asymptomatic and found incidentally, it can lead to appendiceal rupture as it fills with mucus, and ovarian involvement is common
Appendiceal Mucinous Neoplasm (AMN)
what is the genetic defect associated with congenital hyperbilirubinemia?
UGT1A1 gene
What is the most common congenital hyperbilirubinemia?
Gilberts Syndrome
13 year old male with mild isolated unconjugated hyperbilirubinemia and normal LFTs, caloric restriction, and certain drugs (acetaminophen and rifampin) make it worse. He was previously diagnosed with chronic hepatitis but it doesn’t seem right
Gilbert’s Syndrome
AR, UGT1A1*Var. 28
10 yo female with severe unconjugated hyperbilirubinemia (>25mg) at birth. Phototherapy reduced levels but phenobarbital did nothing. There were no detectable UDP-GT or activity expression in hepatic tissue. At 1 year old had an encephalopathic attack (kernicterus). She was placed on the liver transplant list.
Crigler-Najjar Syndrome (Type 1)
AR, UGT1A1 complete loss of function
15 yo female with moderate serum unconjugated hyperbilirubinemia (5-20mg) following severe UTI and treatment. Phototherapy and phenobarbital were effective as treatment?
Crigler-Najjar Syndrome (Type 2)
AD, UGT1A1 partial deficiency
A pregnant patient with intermittent jaundice, serum elevated conjugated hyperbilirubinemia due to reduced glutathione excretion, and mild RUQ pain. Undergoes liver exploratory biopsy that shows a “blackened liver”, iron stain negative, with coarse granular brown-black pigment in hepatocytes and electron-dense lysosomal granules due to auto-oxidation (epi, tyr, p-ala, tryp). What is the defect and condition? Treatment?
Dubin Johnson Syndrome
AR, CMOAT/MRP2/ABCC2 defect
No TX, good prognosis
Patient with photosensitivities and liver dysfunction, liver biopsy reveals fine golden brown pigmentation with protoporphyrin crystals in hepatocytes and bile canaliculi. What is the defect and condition?
Erythropoietic Protoporphyria
ferrochelatase enzyme defect
A patient with intermittent jaundice, serum elevated conjugated hyperbilirubinemia and mild RUQ pain. Undergoes liver exploratory biopsy that shows normal pigmentation of the liver. What is the defect and condition? Treatment?
Rotor Syndrome
AR, organic anion storage defect
No Tx/Benign
Obstruction at large hepatic veins or the IVC?
budd chiari syndrome (BCS)
obstruction at sinusoids or small hepatic veins
sinusoidal obstruction syndrome (SOS)
Patient who recently underwent chemotherapy 3 months ago comes in with painful hepatomegaly, mild jaundice, and ascites. Their alkaline phosphatase was elevated. Biopsy of liver revealed sinusoidal dilation, congestion, hepatic plate atrophy, and RBC extravasation at space of Disse. There were signs of hepatocellular necrosis with absent inflammation.
subacute HVOO or Sinusoidal Obstruction Syndrome (SOS)
A patient struggling with chronic liver failure for years undergoes a routine liver biopsy. Their transaminases are mildly elevated and alkaline phosphatase is elevated. It reveals fibrosis around teh central vein (pericentral) and sinusoids that progressed to cirrhosis that extended to teh hepatic and portal veins.
chronic HVOO, secondary sinusoidal thrombosis
Rare hepatic venous outflow obstruction characterized by acute liver failure?
fulminant HVOO
Patient with caput medusae, splenomegaly, hemorrhagic hepatic necrosis, and PMH of polycythemia vera?
Budd-Chiari Syndrome
A patient with an allogenic stem cell transplant 3 weeks ago comes in experiencing hepatic congestion, portal hypertension, and early signs of liver failure. Liver biopsy reveals accumulation of debris in terminal hepatic vein, damage to endothelial cells in sinusoids, RBX extravasation, and necrosis of perivenular hepatocytes
Sinusoidal Obstruction Syndrome
Who is at risk of SOS?
recent stem cell transplant
chemotherapy
“Bush tea” ingestion (crotalaria, senecio)
What can lead to passive congestion of the liver?
right-sided heart failure
What fails (cardiopulmonary) when you see sudden or short-term impairment of venous drainage and mottled appearance of congested areas of the liver?
right-sided heart failure/PE
What fails (cardiopulmonary) when you see fibrosis, changes in liver architecture, and nutmeg appearance due to chronic pooling of sinusoid blood over a long time?
right-sided heart failure/constrictive pericarditis
Patient going into shock with mottled nutmeg liver, pale periportal parenchyma, centrilobular hemorrhagic necrosis: what (cardiopulmonary) condition?
left-sided heart failure/shock
If on a liver biopsy, you see brownish bile pigment with dilated canaliculi, blunted or fewer microvilli, bile accumulations in hepatocyte lysosomes, apoptotic cells, and kupffer cells with bile pigments what should you be suspecting?
cholestasis
46 yo female comes in with mild jaundice, pruritus, skin xanthomas, and diarrhea with trouble seeing at night?
cholestasis (Vit A def.)
liver biopsy reveals hepatic scarring and regenerative nodule formation with feathery triad of degeneration of hepatocytes including swelling, diffuse bile pigmentation, and reticulated appearance
chronic biliary obstruction
What can be superimposed on the chronic biliary obstruction process triggering an acute-on-chronic liver failure?
ascending cholangitis
Patient comes in septic experiencing RUQ pain, fever, and jaundice (Charcot triad). A bacterial culture reveals gram-negative bacteria. Where was the likely source of the infection and what will you find Gross + Micro?
Ascending cholangitis
Gross: pus in bile ducts
Micro: periductular neutrophils infiltration bile duct
What clinical symptoms indicate suppurative cholangitis?
hypotension + mental confusion
severe prognosis
fibrous bands deposited by activated stellate cells around regenerative nodules of hepatocytes due to persistent necrosis with a characteristic “jigsaw” pattern that alters the liver architecture secondary to chronic bile duct obstruction (end-stage liver will be bile-stain color)?
secondary or obstructive biliary cirrhosis
55 yo female comes in with insidious onset pruritis, progressive jaundice, and fatigue. She had been previously diagnosed with Sjogren’s, abnormal thyroid, AMA (+), elevated IgM, eand levated bilirubin, radiology came back normal, and examination of bile ducts revealed florid duct lesions (with granulomas), cholestasis, and “jigsaw” nodule cirrhosis close to portal tracts due to due to nonsuppurative inflammation.
primary biliary cirrhosis (PBS) - Autoimmune
23 yo male with unpredictable but progressive jaundice, pruritis, hepatomegaly, splenomegaly, diarrhea, and weight loss. He also struggles with IBD (ulcerative colitis) and episodes of pancreatitis. Elevated serum ANCA (+), GGT activity, and ATLs. Cholangiogarohy reveals the beading of large bile ducts of the biliary tree. Micro shows concentric “onion skin” fibrosis around bile ducts (periductal) with biliary “jigsaw: cirrhosis (aka a fibro-obliterative lesion). The liver upon gross examination is irregular, and firm, with diffuse variable-sized green nodules. What does he have and what is he at risk for?
primary sclerosing cholangitis (PSC)
cholangiocarcinoma risk
Chinese man who recently immigrated details recurring bouts of gallbladder duct infections (ascending cholangitis) leading to progressive inflammatory destruction of the liver parenchyma?
primary hepatolithiasis (intrahepatic gallstone formation)
What will around for the content and color of most gallstones in the developed world?
cholesterol - yellow
Choledocholithiasis describes what?
stones in the common bile duct
cholelithiasis describes what?
stones in gallbladder
What are some cholesterol gallstone risk factors?
age, obesity, familial, estrogen/OPC, hypertriglyceridemia, Hispanic women and native Americans
What makes up large (>5mm), soft, flaky, BROWN bilirubin gallstones?
calcium salt bilirubin + palmitate + high [cholesterol]
What kind of gallstones are most associated with ascending cholangitis, biliary inflammation, E. coli + fluke infections?
brown bilirubin gallstones
What makes up the shiny, irregular, 2-5mm, BLACK gallstones?
calcium bilirubinate
What kind of gallstones are most associated with older and malnourished individuals with chronic hemolysis, biliary infections, and total parental nutrition?
black bilirubin gallstones
Patient comes in with RUQ pain and flatulence that comes on after eating steak or loaded nachos, what will confirm the diagnosis?
Radiograph for radiolucent gall stones (cholesterol)
US if >3mm
What are possible complications of cholelithiasis?
acute/chronic cholecystitis
choledocholithiasis
fistulas
acute pancreatitis
gallbladder cancer
Patient who recently underwent immunosuppression post kidney transplant has RUQ pain, tenderness, fever, and guarding. Serum WBC, leucocytosis, and elevated alkaline phosphatase. PE shows (+) Murphey sign. Micro examination shows sludge formation and mucosal ischemia due to phospholipase release with increased lysolecithin and cholesterol-saturated bile.
Acute Cholecystitis
Patient comes in with episodic, steady, abdominal pain located in the epigastrium or sometimes the RUQ that is brought on after eating meals. US shows wall thickening and fibrosis. Biopsy of affected tissues shows predominantly lymphocytic infiltrate and mucosal herniation into the muscularis propria (Rokitansky-Aschoff sinuses)
Chronic cholecystitis
Patient comes in with symptoms of an SBO. Radiograph shows pneumobilia and calcification in the GI tract with proximal dilation and distal narrowing. (Rigler triad)
Gallstone Ileus
(fistula to distal ileum)
When a gallstone is the duodenum or the stomach?
Bouveret syndrome
What is a common chronic cholelithiasis complication aka “porcelain gallbladder”?
GB cancer or cholanguiocarcinoma
Patient comes in with abdominal pain, jaundice, anorexia, nausea, and vomiting. They have a history of chronic parasitic infections (East Asian) OR gallstones with porcelain gallbladder. imaging reveals a focal mural mass invading the adjacent liver and obstructing teh common bile duct. Biopsy shows glandular-like tissue with infiltrating fibrotic wall tissue and exophytic growth patterns.
Gallbladder adenocarcinoma
what triggers the premature activation of enzymes that leads to the aberrant release and autodigestion of the pancreatic parenchyma leading to liquefactive necrosis and fat necrosis of pancreas?
trypsin –> acute pancreatitis
what is the most common cause of acute pancreatitis?
gallstones
A common cause of pancreatitis with toxic etiology?
alcohol
saponification of fat tissue with fat necrosis that may extend to the omentum, retroperitoneum, bone marrow, and subcutaneous tissue; hemorrhaging, and necrotic areas that involve the duct lamina?
severe acute pancreatitis
Enlarged and swollen pancreas with foci of fat necrosis (yellow-white/chalky) that recovers in 5-7 days
mild acute pancreatitis
patient comes in with periumbilical and flank hemorrhage signs, epigastric pain that radiates to the back, necrosis that spreads from periumbilical soft tissue and retroperitoneum, elevated serum lipase and amylase, and hypocalcemia
acute pancreatitis
A 45-year-old man with a history of alcohol abuse comes in experiencing abdominal pain, weight loss, nausea, vomiting, jaundice, ascites, DM, and steatorrhea. Reduced levels of serum vitamin K.
chronic pancreatitis
28 yo male came in with abdominal pain, weight loss, nausea, vomiting, ascites, DM, and jaundice. They note recurrent attacks of similar pain in their youth. What genetic defect would you look for to confirm the diagnosis?
PRSS1 trypsinogen gene - chronic pancreatitis
What is a serum marker with high Sp for pancreatic cancer?
CA19-9 >1000 U/mL
Irregular atrophy and obliteration of pancreatic acini and ducts + fibrosis BUT normal lobular pancreatic architecture + preserved islets of Langerhans rule out pancreatic adenocarcinoma for what?
chronic pancreatitis
45 yo female experiencing pain and fullness of the abdomen with compression of organs and nearby tissues. CT shows a large solitary 9 cm mass with thick walls on the tail (or body) of the pancreas. Biopsy reveals tall columnar mucin epithelium with cellular atypia and ovarian-type stroma* (scant cytoplasm, uniform elongated wavy nuclei)
mucinous cystic neoplasm
66-year-old diabetic notes intermittent epigastric pain, anorexia, back pain, and weight loss for the last year. CT reveals a neoplasm within the main pancreatic duct located at the pancreatic head. The endoscopy revealed mucin extravasation at the ampulla of the vater and the biopsy showed papillary mucin-producing epithelial cells in the main and large duct of the pancreas.
intraductal papillary mucinous neoplasm (IPMN)
Upon a routine physical, a large >4cm abdominal mass was noted on an asymptomatic 55-year-old that was discrete and well demarcated. A biopsy of the pancreatic tail revealed a sponge-like honeycomb appearance filled with serous fluid and numerous tightly packed cells with no communication to the pancreatic duct system.
serous cystic neoplasm
What is a likely precursor to pancreatic ductal adenocarcinoma and characterized by noninvasive low to high-grade nuclear atypia involving pancreatic ducts <5mm diameter?
pancreatic intraepithelial neoplasia (PanIN)
What form of PanIN includes marked nuclear atypia, hyperchromatic nuclei, loss of polarity, cribiforming, and luminal necrosis?
high grade: type 3 + carcinoma in situ
Inactivation of what genes tend to be associated with PanIN-3?
TP53, SMAD4, BRCA2
What makes up nearly 90% of all pancreatic neoplasms: characterized by malignant epithelial neoplasm from the ductal system with glandular differentiation?
pancreatic exocrine neoplasia: infiltrating ductal adenocarcinomas
70 yo AA male with Peutz Jeghers Syndrome comes in painless jaundice ad pruritus, weight loss, epigastric pain that radiates to teh back, anorexia, and depression. Serum CA19-9 and Lewis blood antigen are elevated. A CT shows a solid ill-defined mass on the pancreatic head obstructing the common bile duct alongside metastasis of the lungs and liver. Additional complications including Courvoisier’s gallbladder and migratory thrombophlebitis (trousseau syndrome). A biopsy reveals loss of lobular configuration and sharply angulated glands near thick-walled vessels.
pancreatic adenocarcinoma (infiltrating ductal)
